Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1858830
rs1858830
MET
0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.070 1.000 7 2007 2014
dbSNP: rs1858830
rs1858830
MET
0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.030 1.000 3 2009 2010
dbSNP: rs1858830
rs1858830
MET
0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.030 1.000 3 2009 2014
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 1.000 2 2005 2009
dbSNP: rs121913246
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C2608055
Disease: Hereditary Renal Cell Carcinoma
Hereditary Renal Cell Carcinoma 		0.020 1.000 2 2000 2002
dbSNP: rs10215153
rs10215153
MET
1.000 0.040 7 116759077 intron variant G/A snv 0.32
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 1.000 1 2014 2014
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 1.000 1 2005 2005
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C2349952
Disease: Oropharyngeal Carcinoma
Oropharyngeal Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.710 1.000 1 2003 2007
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0549523
Disease: Oropharynx (excludes nasopharynx)
Oropharynx (excludes nasopharynx) 		0.010 1.000 1 2003 2003
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm 		0.010 1.000 1 2003 2003
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 1.000 1 2009 2009
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0153382
Disease: Malignant neoplasm of oropharynx
Malignant neoplasm of oropharynx 		0.010 1.000 1 2003 2003
dbSNP: rs121913246
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs121913246
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.710 1.000 1 2007 2017
dbSNP: rs121913247
rs121913247
MET
0.882 0.200 7 116783359 missense variant T/C snv
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 1.000 1 2017 2017
dbSNP: rs121913247
rs121913247
MET
0.882 0.200 7 116783359 missense variant T/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs121913668
rs121913668
MET
0.882 0.120 7 116778827 missense variant T/C snv
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		0.010 1.000 1 2002 2002
dbSNP: rs121913671
rs121913671
MET
0.882 0.160 7 116783353 missense variant G/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs121913673
rs121913673
MET
0.925 0.120 7 116782048 missense variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs1621
rs1621
MET
0.925 0.160 7 116797552 3 prime UTR variant G/A;C snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 1.000 1 2010 2010
dbSNP: rs1621
rs1621
MET
0.925 0.160 7 116797552 3 prime UTR variant G/A;C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs17138945
rs17138945
MET
1.000 0.040 7 116703812 intron variant T/G snv 7.3E-02
CUI: C0017638
Disease: Glioma
Glioma 		0.010 1.000 1 2018 2018
dbSNP: rs38841
rs38841
MET
1.000 0.040 7 116679872 intron variant A/G snv 0.28
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2010 2010